ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2021
Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
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Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 4 of them syntheses that pooled it.
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50citing papers in PubMed, 4 pooled it
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
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- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
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- The impact of breast cancer polygenic risk score disclosure on decisional conflict around risk-reducing mastectomy in women with pathogenic BRCA1/2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
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Corrections and comments
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Authors and funding
42 authors at 15 institutions in 2 countries.
Chi GaoHarvard T.H. Chan School of Public Health, Boston, MA.ORCID 0000-0002-8029-4496
Eric C PolleyMayo Clinic, Rochester, MN.ORCID 0000-0002-5152-8740
Steven N HartMayo Clinic, Rochester, MN.ORCID 0000-0001-7714-2734
Hongyan HuangHarvard T.H. Chan School of Public Health, Boston, MA.
Chunling HuMayo Clinic, Rochester, MN.ORCID 0000-0002-6814-4639
Rohan GnanaolivuMayo Clinic, Rochester, MN.
Jenna LilyquistMayo Clinic, Rochester, MN.ORCID 0000-0002-9982-7408
Nicholas J BoddickerMayo Clinic, Rochester, MN.ORCID 0000-0002-6784-2072
Jie NaMayo Clinic, Rochester, MN.ORCID 0000-0003-3435-1805
Christine B AmbrosoneRoswell Park Comprehensive Cancer Center, Buffalo, NY.ORCID 0000-0003-1717-9943
Paul L AuerUWM Joseph J. Zilber School of Public Health, Milwaukee, WI.
Leslie BernsteinBeckman Research Institute of City of Hope, Duarte, CA.ORCID 0000-0002-7692-6518
Elizabeth S BurnsideUniversity of Wisconsin-Madison, Madison, WI.ORCID 0000-0002-6600-435X
A Heather EliassenHarvard T.H. Chan School of Public Health, Boston, MA.
Mia M GaudetDepartment of Population Science, American Cancer Society, Atlanta, GA.ORCID 0000-0002-6429-4007
Christopher HaimanKeck School of Medicine, University of Southern California, Los Angeles, CA.
David J HunterHarvard T.H. Chan School of Public Health, Boston, MA.
Eric J JacobsDepartment of Population Science, American Cancer Society, Atlanta, GA.
Esther M JohnStanford University School of Medicine, Stanford, CA.ORCID 0000-0003-3259-8003
Sara LindströmDepartment of Epidemiology, University of Washington, Seattle, WA.
Huiyan MaBeckman Research Institute of City of Hope, Duarte, CA.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA.ORCID 0000-0001-5053-0390
Polly A NewcombDepartment of Epidemiology, University of Washington, Seattle, WA.ORCID 0000-0001-8786-0043
Katie M O'BrienNational Institute of Environmental Health Sciences, Durham, NC.
Janet E OlsonMayo Clinic, Rochester, MN.
Irene M OngUniversity of Wisconsin-Madison, Madison, WI.ORCID 0000-0002-9353-6941
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA.
Julie R PalmerBoston University School of Medicine and Slone Epidemiology Center, Boston, MA.ORCID 0000-0002-6534-335X
Dale P SandlerNational Institute of Environmental Health Sciences, Durham, NC.ORCID 0000-0002-6776-0018
Rulla TamimiPopulation Health Sciences Department, Weill Cornell Medicine, New York, NY.
Jack A TaylorNational Institute of Environmental Health Sciences, Durham, NC.ORCID 0000-0001-5303-6398
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA.ORCID 0000-0003-2419-8536
Amy Trentham-DietzUniversity of Wisconsin-Madison, Madison, WI.ORCID 0000-0002-5971-4660
Celine M VachonMayo Clinic, Rochester, MN.
Clarice R WeinbergNational Institute of Environmental Health Sciences, Durham, NC.
Song YaoRoswell Park Comprehensive Cancer Center, Buffalo, NY.ORCID 0000-0001-9442-1313
Jeffrey N WeitzelBeckman Research Institute of City of Hope, Duarte, CA.ORCID 0000-0001-6714-092X
David E GoldgarUniversity of Utah, Salt Lake City, UT.ORCID 0000-0003-0697-9347
Susan M DomchekPerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.ORCID 0000-0002-5914-7272
Katherine L NathansonPerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.ORCID 0000-0002-6740-0901
Fergus J CouchMayo Clinic, Rochester, MN.ORCID 0000-0001-9417-9985
Peter KraftHarvard T.H. Chan School of Public Health, Boston, MA.ORCID 0000-0002-4472-8103
Mayo Clinic in Arizona · USAmerican Cancer Society · USCity of Hope · USHarvard University · USNational Institute of Environmental Health Sciences · USUniversity of Wisconsin–Madison · USRoswell Park Comprehensive Cancer Center · USUniversity of Pennsylvania · USUniversity of Washington · USBoston University · USBrigham and Women's Hospital · USCornell University · USStanford University · USUniversity of Southern California · USUniversity of Utah · US
Funding
UW COMPREHENSIVE CANCER CENTER SUPPORTP30CA014520 · NCI · UNIVERSITY OF WISCONSIN-MADISON · PI AMY TRENTHAM-DIETZ · 1985 to 2026
$142.6MTwo-Spirit Films in Indigenous Cancer HealthP30CA016056 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI MARK G FRATTINI · 1985 to 2026
$116.6MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MUniversity of Wisconsin Institute for Clinical and Translational ResearchUL1TR002373 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI ELIZABETH S BURNSIDE, Allan R. Brasier · 2017 to 2026
$75.9MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MCALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7MA Follow-up Study for Causes of Cancer in Black WomenU01CA164974 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Kimberly A. Bertrand, Yvette C Cozier · 2017 to 2026
$24.0MEnvironmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7MLife Course Cancer Epidemiology Cohort in WomenU01CA176726 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 2018 to 2025
$22.4MLong Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3MOil and Gas as Drivers of Climate Change and Health: Developing unique resources to investigate multi-level and diverse effects of exposure to oil and gas wellsU01CA199277 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI LACEY, JAMES V, MARTINEZ, MARIA ELENA · 2015 to 2024
$20.7MCancer Research UK 29186Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049033NCATS NIH HHS UL1 TR002373NCI NIH HHS K24 CA194251NCI NIH HHS P01 CA087969NCI NIH HHS P01 CA151135NCI NIH HHS P30 CA014520NCI NIH HHS P30 CA016056NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA067262NCI NIH HHS R01 CA067264NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA100598NCI NIH HHS R01 CA185623NCI NIH HHS R01 CA192393NCI NIH HHS R01 CA204819NCI NIH HHS R01 CA225662NCI NIH HHS R35 CA253187NCI NIH HHS U01 CA082004NCI NIH HHS U01 CA164920NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA164974NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA199277NCI NIH HHS UM1 CA186107NHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018C
Abstract
purposeThis study assessed the joint association of pathogenic variants (PVs) in breast cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general population.
methodsA total of 26,798 non-Hispanic white BC cases and 26,127 controls from predominately population-based studies in the Cancer Risk Estimates Related to Susceptibility consortium were evaluated for PVs in
resultsThe estimated lifetime risks of BC among general-population noncarriers, based on 10th and 90th percentiles of PRS, were 9.1%-23.9% and 6.7%-18.2% for women with or without first-degree relatives with BC, respectively. Taking PRS into account, more than 95% of
conclusionPRS facilitates personalization of BC risk among carriers of PVs in predisposition genes. Incorporating PRS into BC risk estimation may help identify > 30% of
Indexed as
AdultAgedBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMiddle AgedRisk Factors
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